| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94380974C>A | CA390848546 | SERPINA1 | c.814G>T (p.Ala272Ser) | |
| 14 | g.94380974C>G | CA390848547 | SERPINA1 | c.814G>C (p.Ala272Pro) | |
| 14 | g.94380974C>T | CA390848549 | SERPINA1 | c.814G>A (p.Ala272Thr) | |
| 14 | g.94380975A>C | CA390848551 | SERPINA1 | c.813T>G (p.Asn271Lys) | |
| 14 | g.94380975A>G | CA487840999 | SERPINA1 | c.813T>C (p.Asn271=) | |
| 14 | g.94380975A>T | CA390848553 | SERPINA1 | c.813T>A (p.Asn271Lys) | gnomAD v4 |
| 14 | g.94380976T>A | CA390848555 | SERPINA1 | c.812A>T (p.Asn271Ile) | |
| 14 | g.94380976T>C | CA390848556 | SERPINA1 | c.812A>G (p.Asn271Ser) | |
| 14 | g.94380976T>G | CA390848557 | SERPINA1 | c.812A>C (p.Asn271Thr) | |
| 14 | g.94380977T>A | CA390848558 | SERPINA1 | c.811A>T (p.Asn271Tyr) | gnomAD v4 |
| 14 | g.94380977T>C | CA7327402 | SERPINA1 | c.811A>G (p.Asn271Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94380977T>G | CA390848560 | SERPINA1 | c.811A>C (p.Asn271His) | |
| 14 | g.94380977T= | CA2155953887 | SERPINA1 | c.811A= (p.Asn271=) | |
| 14 | g.94380978G>A | CA487841000 | SERPINA1 | c.810C>T (p.Gly270=) | |
| 14 | g.94380978G>C | CA487841001 | SERPINA1 | c.810C>G (p.Gly270=) | |
| 14 | g.94380978G>T | CA487841002 | SERPINA1 | c.810C>A (p.Gly270=) | gnomAD v4 |
| 14 | g.94380979C>A | CA390848565 | SERPINA1 | c.809G>T (p.Gly270Val) | |
| 14 | g.94380979C= | CA2155953888 | SERPINA1 | c.809G= (p.Gly270=) | |
| 14 | g.94380979C>G | CA390848561 | SERPINA1 | c.809G>C (p.Gly270Ala) | |
| 14 | g.94380979C>T | CA390848563 | SERPINA1 | c.809G>A (p.Gly270Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380980C>A | CA390848566 | SERPINA1 | c.808G>T (p.Gly270Cys) | |
| 14 | g.94380980C>G | CA390848568 | SERPINA1 | c.808G>C (p.Gly270Arg) | |
| 14 | g.94380980C>T | CA390848570 | SERPINA1 | c.808G>A (p.Gly270Ser) | |
| 14 | g.94380981C>A | CA487841003 | SERPINA1 | c.807G>T (p.Leu269=) | |
| 14 | g.94380981C= | CA2155953889 | SERPINA1 | c.807G= (p.Leu269=) | |
| 14 | g.94380981C>G | CA487841004 | SERPINA1 | c.807G>C (p.Leu269=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380981C>T | CA487841005 | SERPINA1 | c.807G>A (p.Leu269=) | |
| 14 | g.94380982A>C | CA390848571 | SERPINA1 | c.806T>G (p.Leu269Arg) | |
| 14 | g.94380982A>G | CA390848573 | SERPINA1 | c.806T>C (p.Leu269Pro) | |
| 14 | g.94380982A>T | CA390848575 | SERPINA1 | c.806T>A (p.Leu269Gln) | |
| 14 | g.94380983G>A | CA487841006 | SERPINA1 | c.805C>T (p.Leu269=) | ClinVar dbSNP |
| 14 | g.94380983G>C | CA390848577 | SERPINA1 | c.805C>G (p.Leu269Val) | |
| 14 | g.94380983G>T | CA390848579 | SERPINA1 | c.805C>A (p.Leu269Met) | |
| 14 | g.94380984G>A | CA487841007 | SERPINA1 | c.804C>T (p.Tyr268=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380984G>C | CA390848580 | SERPINA1 | c.804C>G (p.Tyr268Ter) | |
| 14 | g.94380984G= | CA2155953890 | SERPINA1 | c.804C= (p.Tyr268=) | |
| 14 | g.94380984G>T | CA390848582 | SERPINA1 | c.804C>A (p.Tyr268Ter) | |
| 14 | g.94380985T>A | CA390848584 | SERPINA1 | c.803A>T (p.Tyr268Phe) | COSMIC |
| 14 | g.94380985T>C | CA390848585 | SERPINA1 | c.803A>G (p.Tyr268Cys) | |
| 14 | g.94380985T>G | CA390848583 | SERPINA1 | c.803A>C (p.Tyr268Ser) | |
| 14 | g.94380986A>C | CA390848586 | SERPINA1 | c.802T>G (p.Tyr268Asp) | |
| 14 | g.94380986A>G | CA390848587 | SERPINA1 | c.802T>C (p.Tyr268His) | |
| 14 | g.94380986A>T | CA390848588 | SERPINA1 | c.802T>A (p.Tyr268Asn) | |
| 14 | g.94380987T>A | CA390848590 | SERPINA1 | c.801A>T (p.Lys267Asn) | |
| 14 | g.94380987T>C | CA487841008 | SERPINA1 | c.801A>G (p.Lys267=) | gnomAD v4 |
| 14 | g.94380987T>G | CA390848591 | SERPINA1 | c.801A>C (p.Lys267Asn) | dbSNP |
| 14 | g.94380987T= | CA2155953891 | SERPINA1 | c.801A= (p.Lys267=) | |
| 14 | g.94380988T>A | CA390848593 | SERPINA1 | c.800A>T (p.Lys267Ile) | |
| 14 | g.94380988T>C | CA390848594 | SERPINA1 | c.800A>G (p.Lys267Arg) | COSMIC |
| 14 | g.94380988T>G | CA390848596 | SERPINA1 | c.800A>C (p.Lys267Thr) |